The history of hepatolenticular degeneration started with the cases of "pseudosclerosis" reported by Westphal described the clinical manifestations and the pathological findings, emphasizing the frequently asymptomatic liver cirrhosis, and stressing the familial incidence of the disease; he named it progressive lenticular degeneration. Wilson refutedPresented to the First Pan-American Congress of Neurology (Lima, Peru, October 1963 Full-term pregnancy, nor mal birth. She frequented primary school in a satisfactory way. At the age of 10 years, she had jaundice, which waned spontaneously; she suffered from occa sional epistaxes.The physical, intellectual and gregarious development was normal until the age of 12, when she began to present shaking of the four limbs, followed by progressive disturbance of equilibrium and speech, as well as mental impairment. Only 3 menses untill the age of 16. She does not know a similar disease in her family; she has an elder brother and a younger sister, both healthy.Good general conditions. Hyperhidrosis. Liver and spleen not palpable. Disor ders of behavior and humor, with exhibitionism and crises of aggressivity.Wilsonian facies, with mid-open mouth, slight protrusion of tongue, and "spastic" smile. Normal praxia and language. The patient could not stand.Active movements were present but they were restrained by a marked elastic stiffness in flexion, es pecially in the lower limbs, with painful crises of aggravation. His relatives informed that the patient was in good health untill the middle of 1959, when he suffered a fall owing to a transient lack of consciousness. Soon afterwards he began to display speech disorders, lack of interest for his customary activities, and crises of excitation.He was admitted to an inland hospital, where he stayed for 45 days in drowsiness. When his conditions did further deteriorate, he was removed to the emergency ward of our hospital, and admitted to the Neurologic Department 5 days later. The familial history could not be ascertained.Good physical development; slight jaundice; liver and spleen not palpable. The patient was unconscious, reacting only to painful stimuli. He exhibited spontaneous and pain-induced movements.Waxy stiffness with the cog-wheel phenomenon in the four extremities.The deep reflexes of the limbs were absent, while the orbicularis oris and naso-palpebral reflexes were hyperactive; the Babinski sign was present firstly on the left and later on the right too; the abdominal reflexes were absent; the cough, swallowing, and corneo-palpebral reflexes were present. The patient had a tremor with a parkinsonian rhythm, but with greater amplitude, in the left limbs, especially in the upper left extremity. Bilateral Kayser-Fleischer corneal rings. The results of laboratory examinations are summarized in tables 1 to 4, and the study of copper metabolism in table 7. Soon after admission hyperthermia appeared and the general conditions went worse. In 12-1-1961 hematuria and tracheobronchial oversecretion were noted, the patient dying i...
Metachromatic leucodystrophy is deserving an increasing interest from neurologists and pediatricians, mainly because it is the only disease in the whole group of diffuse cerebral sclerosis amenable to an intra vitam diagnosis by means of bloodless procedures.The merit for this belongs to Austin 1 , who introduced a simple test to demonstrate metachromatic bodies in the urine sediment. Although Hagberg and Svennerholm 8, 9 later showed that the test might be positive even in normal subjects, it is evident that it must be valued if associated with the proper clinical picture and eventually with the familial incidence.The preence of similar metachromatic bodies was demonstrated in the saliva sediment of 4 patients with metachromatic leucodystrophy belonging to the same family; our investigations were extended to the study of the parotid gland of 2 patients, the presence of metachromatic bodies being evidenced in them. In these 2 patients metachromatic bodies were also found in the cerebrospinal fluid sediment. A simple chromatographic test (DennyBrown et al. 6 ) was used for the demonstration of metachromatic lipids in saliva and cerebrospinal fluid.
In the study of 2 cases of metachromatic leucodystrophy, late juvenile form, an increase of the total amino acid content in urine was found. The results of the study of the free amino acids in blood, urine, saliva, and cerebrospinal fluid (CSF) by means of circular and two-dimensional chromatography, and high voltage electrophoresis, are the subject of this communication. MATERIAL AND METHODS MATERIAL-Two familial cases (cousins) of the late juvenile type of metachromatic leucodystrophy were studied. The diagnosis was based on the clinical picture plus the finding of metachromatic bodies in urine (Austin test 1 ), saliva, and CSF (Canelas et al. 12 ), as well as in biopsies of peripheral nerve, liver, and kidney. The clinical and laboratorial data on these cases are extensively reported elsewhere ".The following samples were used:(a) recently emitted or 24-hour urine preserved with thymol; (b) 10 ml of recent blood serum; (c) whole saliva obtained by mechanic stimulus (rubber ball chewing) for periods from 8 to 12 hours; (d) 10 ml of recent CSF collected by lumbar puncture.The fluids were, kept in a refrigerator at 5°C. METHODS-(a) Deproteination, according to Awapara 3 , Troll and Cannan 57 , Stein and Moore 54 , and Campos et al. 10 . Two milliliters of each sample are added to 6 ml of ethanol and then transferred to a glass-stoppered tube and left at room temperature for one hour. The volume now is centrifuged for 10 minutes at 2,000 rpm; 2.5 ml of the supernatant are transferred to a graduated cylinder and completed up to 10 ml with chloroform. The cylinder is shaken and then left in rest until the layers are separated. The acqueous upper layer contains amino acids (A). (b)Hydrolysis of the biologic fluids: 0.5 ml of the upper layer (A) are transferred to a 10 ml ampoule; 0.5 ml of 6N hydrochloric acid are added; the ampoule is closed and put in a stove at 100-110°C for 24 hours. The ampoule is then opened From the
Foi estudada a relação entre as concentrações de 2-sulfaniIamido-5-metilpirimidina (SMP) no LCR e no sangue após a administração oral da droga a 30 pacientes. Do total, 19 apresentavam LCR normal e eram portadores de afecções crônicas não inflamatórias do sistema nervoso. Nos restantes o LCR apresentava alterações de tipos diversos; 4 eram portadores de polirradiculoneurite; um, de meningite crônica; um, de neurolues; 5, de neurocisticercose. Os resultados referentes aos pacientes com LCR normal mostraram que há correlação estatisticamente significativa entre as taxas de SMP no LCR e no sangue. A concentração de SMP no LCR é cêrca da quinta parte da encontrada no sôro. Entre os pacientes com LCR alterado foi encontrado aumento da relação em dois casos de polirradiculoneurite; em ambos havia concentração elevada de SMP no LCR. Nos demais os valôres encontrados para a relação não se afastavam daqueles verificados para pacientes com LCR normal.
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